Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555899096
rs1555899096 		1.000 0.120 20 63659451 missense variant C/T snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555899111
rs1555899111 		1.000 0.120 20 63659506 splice donor variant T/C snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2013 2014
dbSNP: rs6089953
rs6089953 		0.882 0.080 20 63659655 intron variant A/G snv 0.82
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs6089953
rs6089953 		0.882 0.080 20 63659655 intron variant A/G snv 0.82
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs6089953
rs6089953 		0.882 0.080 20 63659655 intron variant A/G snv 0.82
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs34978822
rs34978822 		1.000 0.080 20 63660246 intron variant C/G snv 1.2E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs151214675
rs151214675 		1.000 0.040 20 63661882 missense variant G/A snv 1.6E-04 1.9E-04
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1555899640
rs1555899640 		1.000 0.040 20 63661935 frameshift variant TC/- delins
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.700 0
dbSNP: rs773025155
rs773025155 		1.000 20 63662608 frameshift variant AA/- del 1.2E-05
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1161373315
rs1161373315 		1.000 20 63662876 stop gained C/A;T snv 7.0E-06
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1555899932
rs1555899932 		0.925 20 63662886 stop gained G/T snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1555899932
rs1555899932 		0.925 20 63662886 stop gained G/T snv
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0
dbSNP: rs863223336
rs863223336 		1.000 20 63666066 frameshift variant G/- delins
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0
dbSNP: rs7261546
rs7261546 		0.882 0.080 20 63667320 intron variant C/G;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7261546
rs7261546 		0.882 0.080 20 63667320 intron variant C/G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7261546
rs7261546 		0.882 0.080 20 63667320 intron variant C/G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1555901000
rs1555901000 		1.000 20 63667484 stop gained C/A snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs780546933
rs780546933 		1.000 20 63667503 stop gained C/G;T snv 8.0E-06; 8.0E-06
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs923910999
rs923910999 		0.882 0.160 20 63667537 missense variant A/G snv 4.0E-06
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs923910999
rs923910999 		0.882 0.160 20 63667537 missense variant A/G snv 4.0E-06
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma 		Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs923910999
rs923910999 		0.882 0.160 20 63667537 missense variant A/G snv 4.0E-06
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma 		Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2738780
rs2738780 		0.882 0.080 20 63668461 intron variant T/C snv 0.99
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2738780
rs2738780 		0.882 0.080 20 63668461 intron variant T/C snv 0.99
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2738780
rs2738780 		0.882 0.080 20 63668461 intron variant T/C snv 0.99
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6062299
rs6062299 		0.882 0.080 20 63670901 intron variant G/C snv 0.25
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016